Dystonia in RNA Polymerase III-Related Leukodystrophy.

ABSTRACT:

Objectives

To identify the prevalence of dystonia in a RNA Polymerase III (POLR3)-related leukodystrophy patient cohort and to further characterize their dystonic features.

Background

POLR3-related leukodystrophy is a hypomyelinating leukodystrophy characterized by neurological and non-neurological features. Dystonia remains a challenging and under-recognized feature.

Methods

A retrospective chart review was performed in a cohort of 20 patients for whom videos of a standardized neurological examination were available. Patients were recruited at the Montreal Children's Hospital of the McGill University Health Center and the Myelin Disorders Bioregistry Project. Families were consented at the initial assessment and the following data was recorded: age and symptoms at cl

SUBMITTER: Al Yazidi G 

PROVIDER: S-EPMC6384176 | biostudies-literature | 2019 Feb

REPOSITORIES: biostudies-literature